| Literature DB >> 20878300 |
Frank Weidemann1, Markus Niemann, Claudia Sommer, Meinrad Beer, Frank Breunig, Christoph Wanner.
Abstract
Fabry's disease is a rare genetic storage disorder leading to an accumulation of globotriaosylceramides in the lysosomes of various organs. Being X-chromosomal-linked, most studies in the past focused on involvement in male patients. However, it has been elucidated recently that female patients can present typical organ involvement and, thus, have to be treated respectively. This synopsis wants to systematically review the typical organ involvement in female Fabry patients. Moreover, therapy recommendations especially for female patients are discussed.Entities:
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Year: 2010 PMID： 20878300 DOI： 10.1007/s00063-010-1102-y
Source DB: PubMed Journal: Med Klin (Munich) ISSN： 0723-5003